Overview: Cri du chat translates to “cats cry” in french. It is a chromosomal condition that occurs when a piece of chromosome 5 is missing. Infants with this condition sound like a cat when they cry. (1)
Signs and symptoms: Symptoms vary for different people. But main symptoms are a high pitched cry (like a cat), mental retardation, delayed development, small head, eyes spread far apart, weak muscles, and low birth weight. Some people may have trouble with language, and know how to say very few words. Other signs may be difficulties eating, delayed walking, hyperactivity, and a some children are born with organ defects. Children with Cri du chat who live up to age one generally have a normal life expectancy. Most fatal complications occur before the child turns one. It can be fatal during infancy depending on how severe the case is. Although these characteristics can be difficult both children and adults with this condition are usually happy and like being social. (2)
Genetics: Cri Du Chat is not normally inherited, it involves a deleted chromosome and is not a dominant or recessive allele; it is a genetic accident. The error occurs in early fetal development and a child can get it from an unaffected parent. There is only a very small percentage of cases where the condition is inherited.There are not different types of forms of Cri Du Chat, there are just different cases depending on the severity of the case. It is found on chromosome 5 when a piece of the chromosome is deleted. (2) (3)
Distribution: Cri Du Chat syndrome affects females more often than males (4). Also, some cases of Cri Du Chat syndrome may go undiagnosed. This can make it difficult to determine the frequency of the disorder in the population. This condition affects one in every twenty or fifty thousand children.
Management and treatment: There is no cure for Cri du chat syndrome. But, there is a treatment that stimulates the child to help them improve their muscle tone and speech.This condition can be managed by physical therapy, and speech and motor skill therapy. (5)
Society and Culture
Depending on the severity of the persons syndrome they could live for the most part a normal life. However if someone has a very severer case of Cri du chat they will most likely need assistance for most of their lives. Most people with Cri du chat are just seen as unintelligent because of the slow motor skills it causes, and the slow learning development. Like other diseases that include slow mental development there is a spectrum of how badly you are effected.(7)
Miscellaneous: The 5p- Society is a non-profit corporation, it is a support group for Parents of a child with Cri du chat syndrome (also know has 5p- disease).(6) It was founded by parents whose child had this disease in 1986 it relies on volunteer memberships and donations. There are currently over 800 members.
Cri du chat
Overview:
Cri du chat translates to “cats cry” in french. It is a chromosomal condition that occurs when a piece of chromosome 5 is missing. Infants with this condition sound like a cat when they cry. (1)
Signs and symptoms:
Symptoms vary for different people. But main symptoms are a high pitched cry (like a cat), mental retardation, delayed development, small head, eyes spread far apart, weak muscles, and low birth weight. Some people may have trouble with language, and know how to say very few words. Other signs may be difficulties eating, delayed walking, hyperactivity, and a some children are born with organ defects. Children with Cri du chat who live up to age one generally have a normal life expectancy. Most fatal complications occur before the child turns one. It can be fatal during infancy depending on how severe the case is. Although these characteristics can be difficult both children and adults with this condition are usually happy and like being social. (2)
Genetics:
Cri Du Chat is not normally inherited, it involves a deleted chromosome and is not a dominant or recessive allele; it is a genetic accident. The error occurs in early fetal development and a child can get it from an unaffected parent. There is only a very small percentage of cases where the condition is inherited.There are not different types of forms of Cri Du Chat, there are just different cases depending on the severity of the case. It is found on chromosome 5 when a piece of the chromosome is deleted. (2) (3)
Distribution:
Cri Du Chat syndrome affects females more often than males (4). Also, some cases of Cri Du Chat syndrome may go undiagnosed. This can make it difficult to determine the frequency of the disorder in the population. This condition affects one in every twenty or fifty thousand children.
Management and treatment:
There is no cure for Cri du chat syndrome. But, there is a treatment that stimulates the child to help them improve their muscle tone and speech.This condition can be managed by physical therapy, and speech and motor skill therapy. (5)
Society and Culture
Depending on the severity of the persons syndrome they could live for the most part a normal life. However if someone has a very severer case of Cri du chat they will most likely need assistance for most of their lives. Most people with Cri du chat are just seen as unintelligent because of the slow motor skills it causes, and the slow learning development. Like other diseases that include slow mental development there is a spectrum of how badly you are effected.(7)
Miscellaneous:
The 5p- Society is a non-profit corporation, it is a support group for Parents of a child with Cri du chat syndrome (also know has 5p- disease).(6)
It was founded by parents whose child had this disease in 1986 it relies on volunteer memberships and donations. There are currently over 800 members.
1. https://ghr.nlm.nih.gov/condition/cri-du-chat-syndrome
2. https://www.genome.gov/19517558/
3. https://www.lookfordiagnosis.com/faq.php?term=Cri-Du-Chat+Syndrome&lang=1&from=10
4. https://rarediseases.org/rare-diseases/cri-du-chat-syndrome/
5. https://www.healthline.com/health/cri-du-chat-syndrome#treatment